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Francesca Piceci-Sparascio

Showing results (1-10 of 18) with videos related to

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Parkinsonism & Related Disorders|April 28, 2023
A novel ANO3 variant in two siblings with different phenotypesMarcello Esposito, Assunta Trinchillo, Francesca Piceci-Sparascio, et al.
International Journal of Environmental Research and Public Health|August 9, 2020
The Global Emergency of Novel Coronavirus (SARS-CoV-2): An Update of the Current Status and ForecastingHossein Hozhabri, Francesca Piceci Sparascio, Hamidreza Sohrabi, et al.
Seizure|August 23, 2024
POLR3B de novo variants are a rare cause of infantile myoclonic epilepsyAngela De Dominicis, Fabrizia Stregapede, Vito Luigi Colona, et al.
Genes|August 6, 2021
Cardiac Defects and Genetic Syndromes: Old Uncertainties and New InsightsGiulio Calcagni, Flaminia Pugnaloni, Maria Cristina Digilio, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 28, 2025
Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-upVito Luigi Colona, Viola Ceccatelli, Alessandra Terracciano, et al.
American Journal of Medical Genetics. Part A|January 31, 2025
MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature ReviewAngela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, et al.
Molecular Genetics & Genomic Medicine|June 11, 2020
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritanceAlice Traversa, Enrica Marchionni, Agnese Giovannetti, et al.
Human Mutation|July 15, 2018
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defectRosangela Ferese, Monica Bonetti, Federica Consoli, et al.
Human Molecular Genetics|October 4, 2017
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndromeAdrian Palencia-Campos, Asmat Ullah, Julian Nevado, et al.
Human Mutation|September 9, 2020
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC geneFrancesca Piceci-Sparascio, Adrian Palencia-Campos, Patricia Soto-Bielicka, et al.
Pageof 2

Showing results (1-10 of 18) with videos related to

Sort By:
Pageof 2
Parkinsonism & Related Disorders|April 28, 2023
A novel ANO3 variant in two siblings with different phenotypesMarcello Esposito, Assunta Trinchillo, Francesca Piceci-Sparascio, et al.
International Journal of Environmental Research and Public Health|August 9, 2020
The Global Emergency of Novel Coronavirus (SARS-CoV-2): An Update of the Current Status and ForecastingHossein Hozhabri, Francesca Piceci Sparascio, Hamidreza Sohrabi, et al.
Seizure|August 23, 2024
POLR3B de novo variants are a rare cause of infantile myoclonic epilepsyAngela De Dominicis, Fabrizia Stregapede, Vito Luigi Colona, et al.
Genes|August 6, 2021
Cardiac Defects and Genetic Syndromes: Old Uncertainties and New InsightsGiulio Calcagni, Flaminia Pugnaloni, Maria Cristina Digilio, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 28, 2025
Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-upVito Luigi Colona, Viola Ceccatelli, Alessandra Terracciano, et al.
American Journal of Medical Genetics. Part A|January 31, 2025
MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature ReviewAngela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, et al.
Molecular Genetics & Genomic Medicine|June 11, 2020
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritanceAlice Traversa, Enrica Marchionni, Agnese Giovannetti, et al.
Human Mutation|July 15, 2018
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defectRosangela Ferese, Monica Bonetti, Federica Consoli, et al.
Human Molecular Genetics|October 4, 2017
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndromeAdrian Palencia-Campos, Asmat Ullah, Julian Nevado, et al.
Human Mutation|September 9, 2020
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC geneFrancesca Piceci-Sparascio, Adrian Palencia-Campos, Patricia Soto-Bielicka, et al.
Pageof 2